The Progress of Next Generation Sequencing in the Assessment of Myeloid Malignancies

The introduction and advances on next-generation sequencing have led to novel ways to integrate simultaneous assessment of multiple target genes in routine laboratory analysis. Assessment of myeloid neoplasms with targeted next-generation sequencing panels shows evidence to improve diagnosis, assist therapeutic decisions, provide better information about prognosis, and better detection of minimal residual disease. Herein, we provide information for application and utilization of next-generation sequencing studies with a focus on the most important mutations in acute myeloid leukemia, myelodysplastic syndrome, myeloproliferative neoplasms, and other myelodysplastic/myeloproliferative neoplasms in order to integrate them into the daily clinical practice

Paratiroid karsinomu: Hiperparatiroidinin nadir bir nedeni

Paratiroid karsinomları primer hiperparatiroidinin nadir nedenleri arasında yer alır. Bu tümörler tüm primer hiperparatiroidilerin %0.4-1'inde görülür ve paratiroid bezininin diğer hastalıklarından ayrımı zordur. Daha once paratiroid adenoma tanısı ile opere olan 61 yaşında bayan hasta kliniğimize paratiroid karsinomu şüphesi ile başvurdu. Hastanın klinik muayenesinde tiroid glandın sağ tarafında kitle palpe edildi ve radyolojik incelemeler tanıyı destekledi. Hastaya tiroidektomi, paratiroidektomi, boyun diseksiyonu ve strap kas eksizyonu yapıldı ve patolojik incelemede paratiroid karsinomu tanısı kondu. Hasta oral kalsiyum ve kalsitriol tedavisi ile sorunsuz olarak taburcu edildi.Parathyroid carcinoma is one of the rare causes of primary hyperparathyroidism. These tumors account for 0.4-1% of all cases of primary hyperparathyroidism and it is difficult to distinguish from benign disorders of parathyroid glands. A 61-year-old female patient previously operated for parathyroid adenoma admitted to our clinic with parathyroid carcinoma suspicion. Clinical examination revealed a mass in the right half of the thyroid gland and radiological investigation supported the diagnosis. She underwent surgery and thyroidectomy, parathyroidectomy, neck dissection and strap muscle excision were performed. The pathological investigation revealed parathyroid carcinoma. The patient was discharged uneventful with oral calcitriol and calcium replacement

Hypereosinophilic Cardiac Involvement Presenting With Left Ventricular Massive Thrombus and Cardioembolic Stroke: A Case Report

Introduction: It is well known that the tendency toward thrombosis is increased in cancer patients. The increase in cancer procoagulant and tissue factor levels, endothelial damage, and stasis due to compression are among the most accused causes of thrombosis in cancer patients. Hypereosinophilia is a rare condition that causes endothelial damage leading to thrombosis. Case Presentation: We present a 64-year-old male patient with cardiac involvement of hypereosinophilia which developed in the T-cell lymphoma ground resulting in a fatal cardioembolic stroke. Despite normal left ventricular (LV) contractions, almost half of the ventricular volume was full of thrombus in this case. Conclusion: Hypereosinophilia is a rare cause of thrombus formation in the left ventricle in patients with preserved ejection fraction. However, hypereosinophilic cardiac involvement can lead to rapid, progressive, life-threatening complications

Gastrointestinal Tract Multiple Lymphomatous Polyposis Presented As Mantle Cell Lymphoma

DergiPark: 640245tmsjAims: Mantle cell lymphoma is a mature B cell non-Hodgkin lymphoma which may be presented with the involvement of the gastrointestinal tract as multiple lymphomatous polyposis. The aim of this case report is to increase the awareness of including lymphomatoid polyposis as an entity in the differential diagnosis of multiple polyposis of the gastrointestinal tract. Case Report: A 69-year-old male patient was admitted to the Trakya University Emergency Department with acute abdominal pain. His cli-nical findings were anorexia that started 3-4 months ago together with constipation and nausea causing him to lose 10-15 kg in 7-8 months, with denial of other parameters of B-symptoms (fevers and night sweats). Endoscopic biopsies that were taken from bulbus and duodenum were investigated and he was diagnosed with mantle cell lymphoma. The patient went through an ileoce-cal resection due to his intussusception that caused abdominal pain in the first place. Conclusion: Although being an infrequent disease, gastrointestinal lymphomatoid polyposis should be an entity comprised in differential diagnosis for multiple polyposis of the gastrointestinal tract. On the other hand, there is still not a therapeutic protocol with a definitive cure for gastrointestinal tract mantle cell lymphoma. Elderly patients in high risk group such as our patient should be given treatment by taking their conditions into consideration. Keywords: Mantle cell lymphoma, polyp, non-Hodgkin lymphom

Case Report of An Incidental Unicentric Castleman Disease

DergiPark: 889347tmsjAims: To emphasize the hardship of diagnosing Castleman disease and present a potential treatment method. Case Report: A sixty-three-year-old male patient was admitted to the outpatient clinic with an attack of acute cholecystitis. The patient’s abdominal computed tomography revealed an incidentally detected lipid dense solid mass (64x53x37 mm) at the level of right renal hilum with 29x13 mm solid components in the middle. The patient was admitted to the urology department and underwent surgery where the mass was totally excised due to suspicion of a malignancy (liposarcoma). Histopathological examination later on resulted with unicentric Castleman disease, hyaline vascular subtype. Conclusion: Since unicentric Castleman disease has an asymptomatic clinical course and is quite rare, it is necessary to rule out many potential possibilities before reaching a proper diagnosis. However, unicentric Castleman disease usually exhibits a good prognosis after the removal of the affected lymph node. Still, Castleman disease should be a candidate considered in the differential diagnosis of patients with incidentally discovered lymphadenopathy. On the whole, for a better understanding of underlying pathophysiology, there still lies a gap to be filled with knowledge acquired through further studies

Clinicopathological Features of Myeloid Sarcoma Patients From a Single Center Experience

DergiPark: 700195tmsjAims: This retrospective study aims to emphasize clinicopathological data and diagnosis of an uncommon myeloid neoplasm;myeloid sarcoma. Methods: Data of all patients from 2000-2019 were retrieved from the archives of Trakya University Schoolof Medicine Hematology and Pathology Departments. Patients’ charts were examined retrospectively by collecting data including age, gender, anatomic site, history of hematological malignancy, blood count, pathological characteristics and treatmentsadministered. Results: There were 8 patients; 6 male and 2 female. The median age was 42.5 years (range: 29-69 years). Themost prevalently involved sites were skin, lymph node and bone/soft tissue. There were six patients as myeloid sarcoma withpreexisting or concurrent acute myeloid leukemia, one patient as de novo and one patient as acute myeloid leukemia with myelodysplasia related changes. One of the concurrent acute myeloid leukemia patients was Down syndrome related acute myeloidleukemia with myeloid sarcoma. Immunohistochemically, out of 8 patients, 4 were of myelomonocytic, 2 were of the myelocyticand 2 were of the monocytic differentiation. Conclusion: Myeloid sarcoma is a tumor mass made up of immature myeloid blastsappearing at an anatomical site other than bone marrow. Taking into account of having a challenging diagnosis, unusual cellularinfiltration at any site on a patient especially with a history of acute myeloid leukemia should have myeloid sarcoma in theirdifferential diagnosis. Keywords: Myeloid sarcoma, acute myeloid leukemia, myeloid neoplasi

Nadir bir anjiyomiksolipoma olgusu: Diğer vasküler ve miksod tümörler ile ayırıcı tanı

Otuz altı yaşındaki bir erkek hastanın ensesinde ortaya çıkan bir anjiyomiksolipoma olgusu sunulmaktadır. Lipomatöz tümörlere benign yumuşak doku neoplazileri arasında oldukça sık rastlansa da, anjiyomiksolipom tanısı ile sadece yedi olgu sunumu vardır. Burada tipik anjiyomiksolipom olan yeni bir olguyu sunmaktayız. Histopatolojik olarak bu tümörün en çarpıcı özelliği birbiri içine giren matür yağ dokusu ve hücreden fakir miksoid iğsi hücreli alanlar ve eşlik eden çok sayıda damar yapısıdır. Miksoid iğsi hücreli lipom, vasküler iğsi hücreli lipom, miksoid liposarkom, miksolipom, anjiyolipom ve psödoanjiyomatöz iğsi hücreli lipom anjiyomiksolipom ayırıcı tanıya girebilecek olan lezyonlardır. Bu son derece nadir lezyonun ayırıcı tanısında immunohistokimya oldukça destekleyicidir. Bizim olgumuzda iğsi hücrelerdeki SMA, desmin, S-100 protein ve HMB45 negatifliği ve bunun beraberinde vimentin pozitifliği ve CD34 zayıf pozitifliği tanıya yardımcı olan immunohistokimyasal bulgular olmuştur.A case of angiomyxolipoma in the posterior neck region of a 36-year-old man is presented. Although lipomatous tumors are very frequent among benign soft tissue neoplasms, angiomyxolipoma has been reported only in seven case studies before. We present a new case of a typical angomyxolipoma. Histopathologically, admixture of mature adipocytes, poorly cellular myxoid spindle cell areas and abundant vascular structures are the striking components of this tumor. Myxoid spindle cell lipoma, vascular spindle cell lipoma, myxoid liposarcoma, myxolipoma, angiolipoma and pseudoangiomatous spindle cell lipoma can be considered in the differential diagnosis of angiomyxolipoma. Immunohistochemistry is usually helpful in the diagnosis of this extremely rare entity. In our case, positive staining for vimentin and sparse positivity for CD34, in the absence of reactivity for SMA, desmin, S-100 protein and HMB45 in the spindle cells, are the most important immunohistochemical features that help in the differential diagnosis

MRI Findings in Biliary Cystadenoma

Biliary cystadenoma is a rare cystic hepatic neoplasm. We herein present a 44 year-old female patient with biliary cystadenoma focusing on difficulties in diagnosis because of lack of specific findings with imaging, and the need for surgery. As biliary cystadenomas have high recurrence risks and malignant transformation potential, careful follow-up should not be underestimated. Proper surgical resection of the lesion may be considered the most suitable diagnostic and therapeutic procedure, and prognosis is generally excellent after removal of the tumor